False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size |
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| Authors: | DM Peter Lorenz Rainer Bollmann Georg Klaus Hinkel Marco Mächler Gabriele Siegert Gudrun Stamminger Jörg Wendisch Sabine Ziemer |
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| Institution: | 1. Department of Obstetrics and Gynaecology, Charite Berlin, Germany;2. Institut of Clinical Genetics, Medical Academy Dresden, Germany;3. Institut of Medical Genetics, University of Zürich, Switzerland;4. Institut of Clinical Chemistry and Laboratory Diagnostics, Medical Academy Dresden, Germany;5. Institut of Pathological and Clinical Biochemistry, Charite Berlin, Germany;6. Department of Pediatrics, Medical Academy Dresden, Germany |
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| Abstract: | The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott-Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis. |
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| Keywords: | Wiskott-Aldrich syndrome Fetal blood Platelet count Platelet size |
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